Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Thr10Ile (p.T10I)
(
ENST00000368300.9,
ENST00000368301.6,
ENST00000368299.7,
ENST00000361308.9,
ENST00000675667.1,
ENST00000675939.1,
ENST00000676385.2,
ENST00000677389.1,
ENST00000682650.1,
ENST00000683032.1 )
LMNA p.Thr10Ile (p.T10I) ( ENST00000368301.6, ENST00000368299.7, ENST00000368300.9, ENST00000361308.9, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- lipodystrophy
- Source Database
- DisGeNET
- Description
- Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation.
- Pubmed
- 19169477
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0261080773280298
- Year of publication
- 2008
Drugs